C5703318[trait identifier] AND "GeneReviews"[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 299	NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter)	VWF (R2535*)	Single nucleotide variant (nonsense)	von Willebrand disease type 1 +1 more	GPathogenic
Select item 297	NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter)	VWF (R1659*)	Single nucleotide variant (nonsense)	von Willebrand disease type 1 +2 more	GPathogenic
Select item 285	NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp)	VWF (R1597W)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +4 more	GPathogenic/Likely pathogenic
Select item 310	NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)	VWF (Y1584C)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +7 more	GConflicting classifications of pathogenicity; risk factor
Select item 100369	NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu)	VWF (S1506L)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 100346	NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe)	VWF (I1425F)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +3 more	GLikely pathogenic
Select item 100333	NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys)	VWF (R1379C)	Single nucleotide variant (missense variant)	VWF-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 291	NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln)	VWF (R1341Q)	Single nucleotide variant (missense variant)	VWF-related disorder +1 more	GPathogenic
Select item 290	NM_000552.5(VWF):c.3946G>A (p.Val1316Met)	VWF (V1316M)	Single nucleotide variant (missense variant)	not specified +6 more	GPathogenic
Select item 1679930	NM_000552.5(VWF):c.3923G>T (p.Arg1308Leu)	VWF (R1308L)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 288	NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp)	VWF (R1306W)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +4 more	GPathogenic/Likely pathogenic
Select item 100288	NM_000552.5(VWF):c.3835G>A (p.Val1279Ile)	VWF (V1279I)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 100279	NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)	VWF (P1266Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 314	NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)	VWF (P1266L)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +4 more	GConflicting classifications of pathogenicity
Select item 308	NM_000552.5(VWF):c.3614G>A (p.Arg1205His)	VWF (R1205H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 296	NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	VWF (R854Q)	Single nucleotide variant (missense variant)	Abnormality of coagulation +7 more	GPathogenic/Likely pathogenic
Select item 295	NM_000552.5(VWF):c.2446C>T (p.Arg816Trp)	VWF (R816W)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +1 more	GPathogenic/Likely pathogenic
Select item 303	NM_000552.5(VWF):c.2435del (p.Pro812fs)	VWF (P812fs)	Deletion (frameshift variant)	Abnormal bleeding +5 more	GPathogenic
Select item 294	NM_000552.5(VWF):c.2372C>T (p.Thr791Met)	VWF (T791M)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +1 more	GPathogenic/Likely pathogenic